410. SCREENING AND DIAGNOSIS OF DEPRESSION: CORRELATION OF GENOMIC ALTERATIONS WITH FUNCTIONAL MAGNETIC RESONANCE IMAGING
Abstract Background Approximately 350 million people worldwide suffer from Major Depressive Disorder (MDD), affecting their quality of life and ability to adapt. Risk factors include age, female sex, physical health problems, and childhood trauma. Genetic factors contribute to depression risk. Diagnosis is challenging due to its potential to mimic other diseases. MRI studies have shown potential for diagnosing and treating MDD, but there is a need for a precise molecular diagnostic strategy. This study aims to explore altered genes and correlate variants with MRI findings. Aims & Objectives 1. To explore the significant gene variants involved in patients with Depression and correlate them with functional MRI (fMRI) findings Method This research gathered data from 400 participants (200 individuals diagnosed with depression and 200 age-matched controls) via personal interviews, collecting information on demographics, social behaviors, medical history, and xenobiotic exposure. The degree of depression was evaluated using the 17-item Hamilton Depression Rating Scale (HDRS). Resting-state functional MRI data were obtained utilizing a 3T Siemens Magnetom Skyra scanner with multi-band echo planar imaging (EPI) and MP2RAGE for anatomical differentiation. Blood specimens from 50 patients and 50 controls were obtained in EDTA vacutainers, with DNA preserved at -80°C for subsequent analysis. Genotyping was conducted utilizing Next-Generation Sequencing, and variant validation was achieved through Sanger sequencing. RT-PCR was employed for the functional investigation of important variations. The Hardy-Weinberg equilibrium was assessed, and correlations among genetic variations, fMRI results, and depression were examined utilizing OpenEpi and SPSS. Results Next-Generation Sequencing (NGS) was conducted on a cohort of 30 individuals (15 patients and 15 controls) to ascertain potential genetic correlations with depression. Preliminary findings identified two notable single nucleotide polymorphisms (SNPs) in the DAOA (D-amino acid oxidase activator) and TPH1 (tryptophan hydroxylase 1) genes, which have been previously associated with psychiatric illnesses. Subsequent analyses will address the further validation of these variations, their potential functional implications, and their correlation with fMRI data. Discussion & Conclusions The preliminary findings reported two notable SNPs in the DAOA and TPH1 genes, indicating their possible involvement in the pathogenesis of MDD via glutamatergic and serotonergic pathways. Initial fMRI results will suggest potential changes in brain activity associated with these variations, consistent with established disturbances in the default mode and prefrontal- limbic networks in major depressive disorder (MDD). Although these findings offer insight into the genetic underpinnings of depression, the study is still going on and will be discussed further at the time of conference. The study pointing that the integration of genetic markers with neuroimaging may improve diagnostic precision, facilitating tailored therapies in major depressive disorder (MDD).
Authors
- Sameer Peer (ORCID: https://orcid.org/0000-0002-7674-5004)
- Paramdeep Singh (ORCID: https://orcid.org/0000-0003-4226-201X)
- Anjana Munshi (ORCID: https://orcid.org/0000-0002-7657-8592)
- Sarman Singh (ORCID: https://orcid.org/0000-0002-0749-9647)
- Abhilash Ludhiadch (ORCID: https://orcid.org/0000-0003-4033-9124)
- Jawahar Singh (ORCID: https://orcid.org/0000-0003-1135-6750)
Institutions
- Central University of Punjab (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- The International Journal of Neuropsychopharmacology
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1093/ijnp/pyaf052.264
- Primary Topic
- Health, Environment, Cognitive Aging
- Type
- article
- Field-Weighted Citation Impact
- 0.00